Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STAT3_chr17_42308324_42393442	42338201	GGACCTGA others(313): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02738.hp2 others(2): Show HG01175.hp1 HG02257.hp1 HG02738.hp2 NA18979.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0019 a0001c0001t0025 a0002c0002t0001	a0001c0001t0001g0152 a0001c0001t0006g0214 a0001c0001t0019g0230 others(2): Show a0001c0001t0001g0152 a0001c0001t0006g0214 a0001c0001t0019g0230 a0001c0001t0025g0249 a0002c0002t0001g0194	5	302	0.0166	-320	c.550 others(15): Show c.550+210_551-345del	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STK39_chr2_167949022_168252595	168039296	GAAAAAAG others(313): Show GAAAAAAGCAGATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCCAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(131): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18979.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA19005.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0011 a0002c0002 a0003c0007 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0003t0007 a0001c0003t0029 a0001c0005t0001 a0001c0006t0011 a0001c0010t0008 a0001c0011t0033 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0015 a0002c0002t0024 a0002c0002t0027 a0003c0007t0010 a0004c0009t0006 a0005c0008t0003	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 others(131): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0005g0118 a0001c0001t0005g0121 a0001c0001t0005g0125 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0007g0140 a0001c0001t0007g0143 a0001c0001t0008g0144 a0001c0001t0008g0148 a0001c0001t0008g0151 a0001c0001t0010g0115 a0001c0001t0011g0130 a0001c0001t0011g0131 a0001c0001t0013g0050 a0001c0001t0013g0052 a0001c0001t0014g0132 a0001c0001t0014g0133 a0001c0001t0014g0134 a0001c0001t0016g0147 a0001c0001t0016g0149 a0001c0001t0017g0227 a0001c0001t0017g0262 a0001c0001t0019g0002 a0001c0001t0021g0004 a0001c0001t0022g0005 a0001c0001t0030g0150 a0001c0003t0007g0142 a0001c0003t0029g0139 a0001c0005t0001g0259 a0001c0005t0001g0263 a0001c0005t0001g0264 a0001c0006t0011g0129 a0001c0010t0008g0152 a0001c0011t0033g0266 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0112 a0002c0002t0009g0054 a0002c0002t0009g0057 a0002c0002t0012g0019 a0002c0002t0015g0006 a0002c0002t0024g0021 a0002c0002t0027g0065 a0003c0007t0010g0114 a0004c0009t0006g0008 a0005c0008t0003g0026	134	270	0.4963	-320	c.137 others(21): Show c.1377-22521_1377-22202del	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	14/17			chr2	TogoVar
THEG_chr19_356747_381026	361464	GTTTGACT others(313): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGT CAGCTGCTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCC CTCAGCAGGAGCGTCGGCTGC	G G	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(49): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02080.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp2 NA18948.hp1 NA18965.hp1 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0014	a0001c0001 a0001c0003 a0001c0009 others(6): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0006c0006 a0007c0010 a0007c0013 a0011c0018 a0014c0021	a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 others(7): Show a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 a0001c0009t0003 a0002c0002t0003 a0006c0006t0003 a0007c0010t0003 a0007c0013t0006 a0011c0018t0003 a0014c0021t0003	a0001c0001t0003g0010 a0001c0001t0003g0151 a0001c0001t0003g0158 others(46): Show a0001c0001t0003g0010 a0001c0001t0003g0151 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0241 a0001c0001t0003g0269 a0001c0001t0003g0307 a0001c0001t0003g0344 a0001c0001t0006g0004 a0001c0001t0006g0038 a0001c0001t0006g0052 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0006g0074 a0001c0001t0006g0077 a0001c0001t0006g0082 a0001c0003t0003g0006 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0009t0003g0340 a0001c0009t0003g0342 a0002c0002t0003g0317 a0006c0006t0003g0315 a0007c0010t0003g0184 a0007c0010t0003g0185 a0007c0010t0003g0186 a0007c0013t0006g0014 a0007c0013t0006g0015 a0011c0018t0003g0355 a0011c0018t0003g0356 a0014c0021t0003g0128	52	370	0.1405	-320	c.41 others(9): Show c.416_*735del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8			chr19	TogoVar
TMEM170B_chr6_11532749_11588524	11555858	TAAAGACT others(313): Show TAAAGACTGAGGTACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(334): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(47): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0002t0002 a0001c0002t0008 a0001c0002t0014 a0001c0002t0025 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0050 a0001c0004t0027 a0001c0005t0047 a0001c0006t0002 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(205): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0003g0008 a0001c0001t0003g0028 a0001c0001t0003g0081 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0022 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0029 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0006g0045 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0007g0012 a0001c0001t0007g0152 a0001c0001t0007g0177 a0001c0001t0007g0178 a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0010g0010 a0001c0001t0010g0014 a0001c0001t0010g0074 a0001c0001t0011g0025 a0001c0001t0011g0138 a0001c0001t0011g0141 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0012g0135 a0001c0001t0012g0136 a0001c0001t0012g0137 a0001c0001t0013g0003 a0001c0001t0013g0041 a0001c0001t0013g0155 a0001c0001t0015g0017 a0001c0001t0016g0002 a0001c0001t0017g0078 a0001c0001t0017g0079 a0001c0001t0017g0080 a0001c0001t0018g0007 a0001c0001t0018g0159 a0001c0001t0019g0031 a0001c0001t0019g0083 a0001c0001t0020g0002 a0001c0001t0020g0059 a0001c0001t0020g0062 a0001c0001t0021g0014 a0001c0001t0022g0026 a0001c0001t0022g0167 a0001c0001t0023g0001 a0001c0001t0023g0173 a0001c0001t0024g0001 a0001c0001t0026g0058 a0001c0001t0028g0085 a0001c0001t0029g0164 a0001c0001t0030g0060 a0001c0001t0031g0012 a0001c0001t0032g0006 a0001c0001t0033g0001 a0001c0001t0034g0147 a0001c0001t0035g0003 a0001c0001t0036g0047 a0001c0001t0037g0186 a0001c0001t0044g0065 a0001c0001t0045g0082 a0001c0001t0048g0007 a0001c0001t0049g0022 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0015 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0032 a0001c0002t0002g0035 a0001c0002t0002g0048 a0001c0002t0002g0084 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0139 a0001c0002t0008g0086 a0001c0002t0008g0087 a0001c0002t0008g0103 a0001c0002t0008g0108 a0001c0002t0008g0129 a0001c0002t0008g0143 a0001c0002t0008g0144 a0001c0002t0008g0145 a0001c0002t0014g0034 a0001c0002t0014g0093 a0001c0002t0014g0094 a0001c0002t0014g0140 a0001c0002t0025g0033 a0001c0002t0038g0107 a0001c0002t0039g0146 a0001c0002t0040g0142 a0001c0002t0041g0077 a0001c0002t0042g0005 a0001c0002t0043g0131 a0001c0002t0050g0092 a0001c0004t0027g0054 a0001c0005t0047g0073 a0001c0006t0002g0023 a0002c0003t0001g0171	337	352	0.9574	-320	c.98- others(15): Show c.98-9792_98-9473del	TMEM170B	ENSG00000205269.6	transcript	ENST00000379426.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM240_chr1_1529778_1545624	1530546	ATGGCCGG others(313): Show ATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC ATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAACTAAGAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0074 a0001c0001t0012g0074	1	428	0.0023	-320	c.44 others(11): Show c.4493_*4812del	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		4231		chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77220905	GCCTCCCA others(313): Show GCCTCCCACTCACGCCTCCTCTCCCACCCACGCCTCCCCTCCCACTCTCG CCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCCCACTCT CGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCACACT CACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCATGCCCTGCCTCC CACTCACGCCTCCTCTCTCACTTACACCCCACCTCCCACTCACGCCTCCC CTCCCACTCATGCCCCACCTCCCACTCACACCTCCTCTCTCATTCACACC CCGCCTCCCACTCACGCCTCC	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	322	0.0031	-320	c.312 others(16): Show c.312+834_312+1153del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TPD52L2_chr20_63860270_63896538	63879560	TTTCCCCA others(313): Show TTTCCCCATCCCCACTCTTAGGGCACAAATGCAGGTGTAGCTTCCCCATG CCCACTCTTTAGGCACAAATGCAGGTGTAGCTTCCCCATCCCCACTCTTA GGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACAAAT GCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAG CTTTCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTTCCCATC CCCACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTA GGGCACAAATGCAGGTGCAGC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	368	0.0027	-320	c.375 others(17): Show c.375-3122_375-2803del	TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP2_chr10_133273635_133313872	133291236	GCCCTCCG others(313): Show GCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTC CCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT CCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGT CCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCA TGTCCCTCCGTGTCCCCGTGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0031 a0005c0013t0001g0031	1	284	0.0035	-320	c.121 others(18): Show c.1214+943_1214+1262del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UGT2A3_chr4_68923463_68956804	68925137	CAAAAGAT others(313): Show CAAAAGATTGGACACTCTTGGCCGGGCGCTGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAGATTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(286): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0008 a0009	a0001c0002 a0001c0003 a0001c0010 others(6): Show a0001c0002 a0001c0003 a0001c0010 a0003c0004 a0004c0005 a0004c0013 a0006c0011 a0008c0007 a0009c0009	a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 others(15): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0003t0002 a0001c0003t0005 a0001c0003t0012 a0001c0003t0017 a0001c0003t0018 a0001c0003t0019 a0001c0010t0005 a0003c0004t0006 a0004c0005t0002 a0004c0013t0002 a0006c0011t0013 a0008c0007t0002 a0009c0009t0002	a0001c0002t0003g0009 a0001c0002t0003g0018 a0001c0002t0003g0019 others(208): Show a0001c0002t0003g0009 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0182 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0211 a0001c0002t0004g0213 a0001c0002t0004g0229 a0001c0002t0004g0230 a0001c0002t0014g0212 a0001c0002t0015g0156 a0001c0002t0016g0193 a0001c0003t0002g0001 a0001c0003t0002g0004 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0011 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0063 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0002g0090 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0114 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0005g0002 a0001c0003t0005g0025 a0001c0003t0005g0064 a0001c0003t0005g0065 a0001c0003t0005g0067 a0001c0003t0005g0069 a0001c0003t0005g0070 a0001c0003t0005g0071 a0001c0003t0005g0072 a0001c0003t0005g0074 a0001c0003t0005g0075 a0001c0003t0005g0076 a0001c0003t0005g0077 a0001c0003t0005g0078 a0001c0003t0012g0091 a0001c0003t0017g0073 a0001c0003t0018g0068 a0001c0003t0019g0066 a0001c0010t0005g0137 a0003c0004t0006g0166 a0003c0004t0006g0215 a0003c0004t0006g0216 a0003c0004t0006g0217 a0003c0004t0006g0218 a0004c0005t0002g0112 a0004c0005t0002g0113 a0004c0005t0002g0128 a0004c0013t0002g0214 a0006c0011t0013g0163 a0008c0007t0002g0096 a0009c0009t0002g0134	289	459	0.6296	-320	c.43 others(11): Show c.4356_*4675del	UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding		3325		chr4	TogoVar
YTHDC2_chr5_113508694_113600284	113545719	TTGATCTC others(313): Show TTGATCTCCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(148): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19076.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013	a0001c0017 a0002c0002 a0002c0006 others(16): Show a0001c0017 a0002c0002 a0002c0006 a0002c0008 a0002c0010 a0002c0012 a0002c0013 a0002c0018 a0002c0021 a0003c0003 a0003c0007 a0005c0009 a0006c0014 a0007c0015 a0008c0019 a0009c0020 a0011c0023 a0012c0024 a0013c0016	a0001c0017t0001 a0002c0002t0003 a0002c0002t0004 others(23): Show a0001c0017t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0015 a0002c0006t0004 a0002c0006t0005 a0002c0008t0006 a0002c0008t0007 a0002c0008t0016 a0002c0010t0004 a0002c0012t0004 a0002c0013t0004 a0002c0018t0003 a0002c0021t0004 a0003c0003t0002 a0003c0003t0011 a0003c0007t0004 a0005c0009t0003 a0006c0014t0004 a0007c0015t0002 a0008c0019t0004 a0009c0020t0017 a0011c0023t0012 a0012c0024t0002 a0013c0016t0003	a0001c0017t0001g0155 a0002c0002t0003g0009 a0002c0002t0003g0204 others(142): Show a0001c0017t0001g0155 a0002c0002t0003g0009 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0243 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0287 a0002c0002t0003g0288 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0305 a0002c0002t0003g0306 a0002c0002t0004g0294 a0002c0002t0014g0262 a0002c0002t0015g0009 a0002c0006t0004g0208 a0002c0006t0004g0209 a0002c0006t0004g0228 a0002c0006t0004g0229 a0002c0006t0005g0194 a0002c0006t0005g0195 a0002c0006t0005g0196 a0002c0006t0005g0197 a0002c0006t0005g0198 a0002c0006t0005g0199 a0002c0006t0005g0206 a0002c0006t0005g0211 a0002c0006t0005g0212 a0002c0006t0005g0213 a0002c0006t0005g0214 a0002c0006t0005g0215 a0002c0008t0006g0216 a0002c0008t0006g0217 a0002c0008t0006g0218 a0002c0008t0006g0222 a0002c0008t0006g0224 a0002c0008t0006g0226 a0002c0008t0007g0220 a0002c0008t0007g0221 a0002c0008t0007g0223 a0002c0008t0007g0225 a0002c0008t0007g0227 a0002c0008t0016g0219 a0002c0010t0004g0007 a0002c0010t0004g0201 a0002c0010t0004g0202 a0002c0012t0004g0200 a0002c0012t0004g0203 a0002c0013t0004g0247 a0002c0013t0004g0250 a0002c0018t0003g0286 a0002c0021t0004g0210 a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0020 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0030 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0011g0021 a0003c0003t0011g0031 a0003c0007t0004g0008 a0003c0007t0004g0230 a0003c0007t0004g0231 a0003c0007t0004g0232 a0003c0007t0004g0233 a0003c0007t0004g0234 a0003c0007t0004g0235 a0003c0007t0004g0236 a0003c0007t0004g0237 a0003c0007t0004g0238 a0003c0007t0004g0239 a0003c0007t0004g0240 a0003c0007t0004g0241 a0003c0007t0004g0242 a0005c0009t0003g0001 a0005c0009t0003g0253 a0005c0009t0003g0261 a0005c0009t0003g0268 a0005c0009t0003g0269 a0006c0014t0004g0248 a0006c0014t0004g0249 a0007c0015t0002g0013 a0008c0019t0004g0207 a0009c0020t0017g0244 a0011c0023t0012g0014 a0012c0024t0002g0026 a0013c0016t0003g0267	151	316	0.4779	-320	c.149 others(19): Show c.1496-2807_1496-2488del	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZFPM2_chr8_105313438_105809539	105658290	TAGAAATC others(313): Show TAGAAATCAAAGCAGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG00738.hp2 others(43): Show HG00558.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01952.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18945.hp1 NA18957.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0016 a0002c0002 others(9): Show a0001c0001 a0001c0016 a0002c0002 a0002c0003 a0002c0012 a0002c0013 a0003c0004 a0006c0008 a0007c0010 a0008c0007 a0009c0014 a0010c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0016t0007 a0002c0002t0001 a0002c0003t0002 a0002c0003t0006 a0002c0012t0001 a0002c0013t0002 a0003c0004t0004 a0003c0004t0010 a0003c0004t0011 a0006c0008t0001 a0007c0010t0003 a0008c0007t0001 a0009c0014t0004 a0010c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0003g0018 a0001c0001t0003g0084 a0001c0001t0009g0056 a0001c0016t0007g0011 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0046 a0002c0002t0001g0060 a0002c0002t0001g0065 a0002c0002t0001g0078 a0002c0002t0001g0086 a0002c0003t0002g0022 a0002c0003t0002g0043 a0002c0003t0002g0077 a0002c0003t0006g0087 a0002c0012t0001g0016 a0002c0013t0002g0005 a0003c0004t0004g0045 a0003c0004t0004g0050 a0003c0004t0010g0091 a0003c0004t0011g0090 a0006c0008t0001g0015 a0007c0010t0003g0013 a0008c0007t0001g0008 a0009c0014t0004g0026 a0010c0015t0001g0059	46	92	0.5000	-320	c.532 others(19): Show c.532+23950_532+24269del	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF835_chr19_56656980_56676757	56669497	AGGGGCCT others(313): Show AGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0128 a0002c0002t0001g0128	1	450	0.0022	-320	c.-48 others(17): Show c.-48+1759_-48+2078del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ZNF835_chr19_56656980_56676757	56669706	TCAGGAGT others(313): Show TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTACCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACT TGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTA TCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCC TCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCA TAAATGTACTTGGGGGCCTAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 NA21309.hp1 HG02258.hp1 HG02572.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0004 a0001c0001t0004 a0003c0003t0004	a0001c0001t0004g0099 a0003c0003t0004g0037 a0001c0001t0004g0099 a0003c0003t0004g0037	3	450	0.0067	-320	c.-48 others(17): Show c.-48+1550_-48+1869del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
ADCY10_chr1_167804386_167919134	167897705	TATCAACA others(312): Show TATCAACAAGGCCGGGCGCCAGGGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCAGGAGGACAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTACTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG GGAATGGCGTAAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAAGCCTGGGGCGACAGAGAGAGACTCTGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02895.hp1 others(7): Show HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03688.hp2 HG03710.hp2 NA18522.hp1 NA18906.hp1 NA20300.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0001 a0003c0009 a0004c0011 others(1): Show a0002c0001 a0003c0009 a0004c0011 a0004c0058	a0002c0001t0001 a0002c0001t0003 a0003c0009t0003 others(3): Show a0002c0001t0001 a0002c0001t0003 a0003c0009t0003 a0004c0011t0002 a0004c0011t0003 a0004c0058t0002	a0002c0001t0001g0298 a0002c0001t0003g0012 a0003c0009t0003g0297 others(7): Show a0002c0001t0001g0298 a0002c0001t0003g0012 a0003c0009t0003g0297 a0004c0011t0002g0018 a0004c0011t0002g0023 a0004c0011t0002g0296 a0004c0011t0003g0017 a0004c0011t0003g0019 a0004c0011t0003g0021 a0004c0058t0002g0020	10	326	0.0307	-319	c.643 others(17): Show c.643-1333_643-1015del	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	6/32			chr1	TogoVar
ADGRD1_chr12_130948907_131146469	131037345	CCTCACTC others(312): Show CCTCACTCACTGCACTGGGTCTTACTCACTGCACTGGGGTCTCACTCACT ACACCAGGTCTCAGTCACTGCACTGGGTCTCACTGCACCAGGATCTTACT CACTGCATGGGGCCTCACTCACTGCACCGGGCCTCACTCACTGCACTGGG TCTTACTCATTGCACTGGGTCTCACTCACTACACCAGGTCTCAGTCACTG CACTGGGTCTCACTCACTGCACCAGGATCTTACTGCATGGGGCCGCACTC ACTGCACCGGGTCTCACTCACTGCACCAGGATCTTACTCACTGCATGGGG CCTCACTCACTGCACCGGGT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02280.hp2 HG02572.hp1 others(1): Show HG01516.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0028 a0001c0003t0029 a0001c0004t0015 others(1): Show a0001c0001t0028 a0001c0003t0029 a0001c0004t0015 a0001c0007t0004	a0001c0001t0028g0205 a0001c0003t0029g0214 a0001c0004t0015g0093 others(1): Show a0001c0001t0028g0205 a0001c0003t0029g0214 a0001c0004t0015g0093 a0001c0007t0004g0018	4	242	0.0165	-319	c.147 others(21): Show c.1473+23033_1473+23351del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AP3D1_chr19_2095988_2156566	2128704	GCCCCCGC others(312): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCCGCCGCTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18970.hp2 NA18977.hp2 others(1): Show NA18966.hp2 NA18970.hp2 NA18977.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0020 a0002c0009 a0001c0004 a0001c0020 a0002c0009	a0001c0004t0002 a0001c0020t0002 a0002c0009t0002 a0001c0004t0002 a0001c0020t0002 a0002c0009t0002	a0001c0004t0002g0240 a0001c0004t0002g0248 a0001c0020t0002g0232 others(1): Show a0001c0004t0002g0240 a0001c0004t0002g0248 a0001c0020t0002g0232 a0002c0009t0002g0278	4	406	0.0099	-319	c.806 others(14): Show c.806+67_806+385del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARSB_chr5_78772209_78990310	78981903	TAGATATG others(312): Show TAGATATGACTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(10): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0015 a0001c0022 a0002c0002 a0003c0004 a0003c0014 a0004c0006 a0006c0020 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(85): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0010 a0001c0003t0012 a0001c0003t0016 a0001c0003t0018 a0001c0003t0022 a0001c0003t0027 a0001c0003t0031 a0001c0003t0035 a0001c0003t0041 a0001c0003t0060 a0001c0003t0061 a0001c0003t0070 a0001c0003t0073 a0001c0005t0013 a0001c0005t0017 a0001c0005t0032 a0001c0007t0004 a0001c0007t0036 a0001c0007t0068 a0001c0008t0002 a0001c0008t0008 a0001c0015t0027 a0001c0022t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0025 a0002c0002t0026 a0002c0002t0030 a0002c0002t0033 a0002c0002t0045 a0002c0002t0057 a0002c0002t0063 a0002c0002t0064 a0002c0002t0067 a0002c0002t0071 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0007 a0003c0004t0011 a0003c0004t0012 a0003c0004t0023 a0003c0004t0029 a0003c0004t0033 a0003c0004t0049 a0003c0004t0054 a0003c0004t0062 a0003c0004t0072 a0003c0014t0015 a0004c0006t0004 a0004c0006t0024 a0006c0020t0003 a0007c0012t0032	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 others(171): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0289 a0001c0001t0001g0305 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0002g0005 a0001c0001t0002g0104 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0261 a0001c0001t0002g0317 a0001c0001t0003g0140 a0001c0001t0003g0159 a0001c0001t0003g0167 a0001c0001t0003g0190 a0001c0001t0003g0214 a0001c0001t0003g0293 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0195 a0001c0001t0005g0208 a0001c0001t0006g0219 a0001c0001t0006g0356 a0001c0001t0007g0115 a0001c0001t0007g0181 a0001c0001t0008g0131 a0001c0001t0008g0279 a0001c0001t0008g0286 a0001c0001t0008g0297 a0001c0001t0010g0107 a0001c0001t0010g0141 a0001c0001t0010g0147 a0001c0001t0011g0105 a0001c0001t0013g0170 a0001c0001t0014g0189 a0001c0001t0014g0199 a0001c0001t0018g0130 a0001c0001t0020g0146 a0001c0001t0020g0290 a0001c0001t0021g0173 a0001c0001t0021g0174 a0001c0001t0024g0182 a0001c0001t0025g0316 a0001c0001t0039g0291 a0001c0001t0040g0288 a0001c0003t0002g0101 a0001c0003t0002g0253 a0001c0003t0002g0320 a0001c0003t0002g0354 a0001c0003t0006g0103 a0001c0003t0006g0156 a0001c0003t0006g0212 a0001c0003t0006g0254 a0001c0003t0007g0132 a0001c0003t0008g0116 a0001c0003t0009g0281 a0001c0003t0010g0157 a0001c0003t0012g0166 a0001c0003t0012g0177 a0001c0003t0016g0258 a0001c0003t0018g0260 a0001c0003t0022g0178 a0001c0003t0027g0114 a0001c0003t0031g0119 a0001c0003t0035g0357 a0001c0003t0041g0155 a0001c0003t0060g0210 a0001c0003t0061g0252 a0001c0003t0070g0251 a0001c0003t0073g0099 a0001c0005t0013g0004 a0001c0005t0017g0003 a0001c0005t0017g0255 a0001c0005t0032g0117 a0001c0007t0004g0100 a0001c0007t0036g0259 a0001c0007t0068g0111 a0001c0008t0002g0120 a0001c0008t0008g0118 a0001c0015t0027g0102 a0001c0022t0006g0359 a0002c0002t0001g0158 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0287 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0310 a0002c0002t0002g0125 a0002c0002t0002g0179 a0002c0002t0002g0186 a0002c0002t0002g0295 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0003g0129 a0002c0002t0003g0137 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0306 a0002c0002t0003g0319 a0002c0002t0005g0192 a0002c0002t0005g0318 a0002c0002t0006g0126 a0002c0002t0006g0191 a0002c0002t0006g0204 a0002c0002t0006g0205 a0002c0002t0006g0206 a0002c0002t0006g0211 a0002c0002t0006g0294 a0002c0002t0007g0313 a0002c0002t0008g0311 a0002c0002t0009g0121 a0002c0002t0009g0136 a0002c0002t0009g0138 a0002c0002t0009g0193 a0002c0002t0009g0194 a0002c0002t0009g0309 a0002c0002t0013g0216 a0002c0002t0013g0300 a0002c0002t0014g0106 a0002c0002t0015g0207 a0002c0002t0015g0296 a0002c0002t0018g0308 a0002c0002t0019g0303 a0002c0002t0025g0213 a0002c0002t0026g0176 a0002c0002t0030g0304 a0002c0002t0033g0217 a0002c0002t0045g0302 a0002c0002t0057g0284 a0002c0002t0063g0198 a0002c0002t0064g0285 a0002c0002t0067g0203 a0002c0002t0071g0280 a0003c0004t0001g0001 a0003c0004t0001g0124 a0003c0004t0001g0153 a0003c0004t0001g0154 a0003c0004t0001g0187 a0003c0004t0002g0128 a0003c0004t0003g0283 a0003c0004t0003g0292 a0003c0004t0004g0122 a0003c0004t0004g0149 a0003c0004t0004g0150 a0003c0004t0007g0152 a0003c0004t0011g0007 a0003c0004t0012g0123 a0003c0004t0023g0148 a0003c0004t0023g0151 a0003c0004t0029g0108 a0003c0004t0029g0109 a0003c0004t0033g0282 a0003c0004t0049g0139 a0003c0004t0054g0142 a0003c0004t0062g0133 a0003c0004t0072g0323 a0003c0014t0015g0202 a0004c0006t0004g0188 a0004c0006t0004g0215 a0004c0006t0024g0175 a0006c0020t0003g0127 a0007c0012t0032g0180	175	360	0.4861	-319	c.312 others(17): Show c.312+2715_312+3033del	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ATAD3A_chr1_1507162_1539685	1530531	TAAAAACT others(312): Show TAAAAACTAAGAATAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00438.hp1 others(142): Show HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0014	a0001c0001 a0001c0003 a0001c0004 others(15): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0014 a0001c0024 a0001c0025 a0001c0026 a0001c0037 a0001c0038 a0002c0002 a0002c0020 a0004c0007 a0005c0009 a0006c0017 a0008c0010 a0009c0013 a0014c0022	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(18): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0012 a0001c0005t0003 a0001c0014t0001 a0001c0024t0001 a0001c0025t0003 a0001c0026t0001 a0001c0037t0019 a0001c0038t0020 a0002c0002t0001 a0002c0002t0012 a0002c0002t0016 a0002c0020t0001 a0004c0007t0001 a0005c0009t0008 a0006c0017t0008 a0008c0010t0001 a0009c0013t0001 a0014c0022t0001	a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 others(130): Show a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0003t0001g0017 a0001c0003t0001g0043 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0317 a0001c0003t0001g0318 a0001c0003t0001g0319 a0001c0003t0001g0322 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0001g0326 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0329 a0001c0003t0001g0332 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0295 a0001c0004t0001g0296 a0001c0004t0001g0297 a0001c0004t0001g0298 a0001c0004t0001g0304 a0001c0004t0012g0102 a0001c0005t0003g0044 a0001c0005t0003g0339 a0001c0005t0003g0342 a0001c0005t0003g0343 a0001c0005t0003g0344 a0001c0005t0003g0345 a0001c0014t0001g0340 a0001c0014t0001g0341 a0001c0024t0001g0320 a0001c0025t0003g0350 a0001c0026t0001g0346 a0001c0037t0019g0316 a0001c0038t0020g0315 a0002c0002t0001g0006 a0002c0002t0001g0016 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0309 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0012g0246 a0002c0002t0012g0305 a0002c0002t0016g0238 a0002c0002t0016g0247 a0002c0020t0001g0236 a0004c0007t0001g0241 a0004c0007t0001g0242 a0004c0007t0001g0308 a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 a0006c0017t0008g0018 a0008c0010t0001g0334 a0008c0010t0001g0335 a0009c0013t0001g0321 a0009c0013t0001g0323 a0014c0022t0001g0017	145	420	0.3452	-319	c.161 others(19): Show c.1614+1217_1614+1535del	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP11A_chr13_112685038_112892168	112766866	AGGGTGTG others(312): Show AGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGG GTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAG CCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGG AAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGA GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAG TGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGC CCCTGTAGGAAGGTAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0001 a0003c0047t0001	a0003c0047t0001g0038 a0003c0047t0001g0038	1	254	0.0039	-319	c.40- others(17): Show c.40-18267_40-17949del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATRNL1_chr10_115088365_115953999	115246540	AATCTCTC others(312): Show AATCTCTCTCATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTAGCGCAATCTCGGCTCACTGC AAGCTCCACTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp2 others(55): Show HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01109.hp1 HG01258.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18959.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0002c0004 a0002c0008 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0002t0028 a0001c0003t0002 a0001c0003t0031 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0006t0009 a0001c0006t0013 a0001c0006t0033 a0001c0007t0027 a0001c0007t0030 a0001c0011t0002 a0001c0013t0009 a0002c0004t0002 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012 a0002c0008t0011 a0002c0008t0044 a0002c0014t0009	a0001c0001t0001g0120 a0001c0001t0002g0015 a0001c0001t0002g0077 others(55): Show a0001c0001t0001g0120 a0001c0001t0002g0015 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0007g0027 a0001c0001t0008g0014 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0010g0018 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0011g0112 a0001c0001t0011g0119 a0001c0001t0013g0019 a0001c0001t0016g0031 a0001c0001t0017g0028 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0022g0032 a0001c0001t0023g0022 a0001c0001t0024g0024 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0001t0029g0075 a0001c0001t0035g0118 a0001c0001t0036g0117 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0003t0031g0016 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0009g0038 a0001c0006t0013g0029 a0001c0006t0033g0035 a0001c0007t0027g0006 a0001c0007t0030g0008 a0001c0011t0002g0116 a0001c0013t0009g0078 a0002c0004t0002g0012 a0002c0004t0002g0013 a0002c0004t0006g0084 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0008t0011g0073 a0002c0008t0044g0063 a0002c0014t0009g0072	58	128	0.4531	-319	c.168 others(19): Show c.1687+4831_1687+5149del	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
BRSK2_chr11_1384934_1467689	1435232	AGCGGAGG others(312): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCG GTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAG GGGTGCCGGTGGGGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02717.hp1 HG01346.hp2 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0034 a0002c0005t0034	a0002c0005t0034g0055 a0002c0005t0034g0056 a0002c0005t0034g0055 a0002c0005t0034g0056	2	360	0.0056	-319	c.92- others(13): Show c.92-764_92-446del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404481	GGGGCACG others(312): Show GGGGCACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGGGTCCTGCCCTGAGGG GTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGG GTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGG TGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGT CCTGCCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA19085.hp1 HG02080.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0060 a0001c0002t0003 a0001c0002t0060	a0001c0002t0003g0002 a0001c0002t0060g0124 a0001c0002t0003g0002 a0001c0002t0060g0124	2	322	0.0062	-319	c.22 others(11): Show c.2296_*2614del	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		963		chr19	TogoVar
CACNA2D3_chr3_54117552_55079557	54809298	TCCTTCCT others(312): Show TCCTTCCTTCTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02280.hp2 others(5): Show HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0023t0001	a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0045 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0007t0001g0043 a0001c0007t0001g0067 a0001c0023t0001g0018	8	118	0.0678	-319	c.138 others(19): Show c.1381-7538_1381-7220del	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNG7_chr19_53904278_53948950	53919937	TATTGGTG others(312): Show TATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGC CTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCA GGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCC CAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGACTTG CCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGT GGACTTGCCCCAGGCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG06807.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0355 a0001c0001t0001g0021 a0001c0001t0001g0355	2	364	0.0055	-319	c.424 others(17): Show c.424+4446_424+4764del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCSER1_chr4_90122394_91610295	90461048	AGGCTATT others(312): Show AGGCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG01884.hp2 others(10): Show HG01192.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03516.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0005 a0004c0004 a0006c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0003t0002 a0001c0008t0019 a0002c0002t0001 a0003c0005t0010 a0004c0004t0004 a0006c0006t0016	a0001c0001t0003g0034 a0001c0001t0004g0022 a0001c0001t0005g0017 others(10): Show a0001c0001t0003g0034 a0001c0001t0004g0022 a0001c0001t0005g0017 a0001c0001t0007g0036 a0001c0001t0009g0037 a0001c0001t0011g0003 a0001c0001t0013g0035 a0001c0003t0002g0015 a0001c0008t0019g0029 a0002c0002t0001g0006 a0003c0005t0010g0004 a0004c0004t0004g0018 a0006c0006t0016g0020	13	38	0.3421	-319	c.160 others(19): Show c.1604-7175_1604-6857del	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CKAP2_chr13_52450478_52481627	52469567	ATGAAATA others(312): Show ATGAAATAATATTTATTTATTTATTTATTTATTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp1 NA18522.hp2 others(1): Show HG02970.hp2 HG06807.hp1 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0005 a0001c0013t0008 a0001c0001t0005 a0001c0013t0008	a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0013t0008g0155 a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0013t0008g0155	4	406	0.0099	-319	c.154 others(19): Show c.1546+1236_1546+1554del	CKAP2	ENSG00000136108.15	transcript	ENST00000258607.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLPTM1L_chr5_1312752_1350099	1327465	TCCAGCTC others(312): Show TCCAGCTCCTCCTCTACAGGGACATTTCATCCAGCTCCTCCTCTACAGGG ACATTCCATCCAGCTCCTCCTCTACAGGGACATTCCATCCAGCTCCTGCT CTACAGGGACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAG CTCCTCCTCTACAGACACATTCCACCCAGCTCCTCCTCTACAGACACATT TCATCCAGCTCCTCCTCTACAGACACATTTCATCCTGCTCCTCCTCTACA GGGACATTTCATCCAGCTCCTCCTCTACAGGGACATTCCACCCAGCTCCT CCTCTACAGGGACATTCCAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0346 a0001c0001t0003g0346	1	370	0.0027	-319	c.108 others(19): Show c.1081-1968_1081-1650del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328386	GACATTTC others(312): Show GACATTTCTTCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCC TCTACAGACACATTTCATCCAGCTCCTCCTCTGCAGACACATTCCATCCA GCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTGCAGACACAT TTCATCCAGCTCCTCCTCTACGGACACATTTCATCCAGCTCCTCCTCTAC AGACAGATTTCATCCAGCTCCTCCTCTACAGACACACTTCATCCAGCTCC TCCTCTACAGACAGTTTTCTTCCAGCTCCTTGTCTACAGACACATTTCAT CCAGCTCCTCCTCTATAGAC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0316 a0001c0001t0001g0317	2	370	0.0054	-319	c.108 others(19): Show c.1080+1575_1080+1893del	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CNTLN_chr9_17130040_17508923	17178946	CAGAAGTG others(312): Show CAGAAGTGTAGATTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02258.hp1 HG01109.hp1 HG02109.hp1 HG02258.hp1	a0001 a0013 a0001 a0013	a0001c0055 a0013c0019 a0001c0055 a0013c0019	a0001c0055t0001 a0013c0019t0002 a0001c0055t0001 a0013c0019t0002	a0001c0055t0001g0021 a0013c0019t0002g0119 a0013c0019t0002g0120 a0001c0055t0001g0021 a0013c0019t0002g0119 a0013c0019t0002g0120	3	218	0.0138	-319	c.449 others(19): Show c.449+35588_449+35906del	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
COX7A2_chr6_75232787_75248801	75248067	TCCACATC others(312): Show TCCACATCCTTTATCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(351): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0003g0032 a0001c0001t0004g0049 a0001c0001t0005g0045 a0001c0001t0006g0046 a0002c0002t0001g0021	354	382	0.9267	-319	c.-46 others(11): Show c.-4652_-4334del	COX7A2	ENSG00000112695.13	transcript	ENST00000684430.2	protein_coding		4267		chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106535747	AAGCCACT others(312): Show AAGCCACTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(250): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(61): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0037 a0038 a0039 a0040 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068	a0001c0001 a0001c0009 a0001c0022 others(72): Show a0001c0001 a0001c0009 a0001c0022 a0001c0024 a0001c0067 a0002c0003 a0002c0011 a0003c0002 a0003c0038 a0004c0004 a0004c0057 a0004c0069 a0006c0005 a0007c0007 a0008c0010 a0009c0012 a0010c0013 a0011c0014 a0012c0015 a0013c0016 a0014c0017 a0015c0018 a0016c0023 a0016c0039 a0017c0019 a0018c0037 a0018c0044 a0019c0020 a0020c0021 a0021c0026 a0022c0040 a0022c0061 a0023c0025 a0024c0027 a0025c0062 a0026c0041 a0027c0042 a0028c0043 a0029c0049 a0030c0047 a0031c0048 a0032c0045 a0033c0046 a0034c0052 a0035c0051 a0037c0059 a0038c0058 a0039c0056 a0040c0065 a0042c0055 a0043c0066 a0044c0068 a0045c0053 a0046c0064 a0047c0060 a0048c0070 a0049c0071 a0050c0063 a0051c0035 a0052c0030 a0053c0031 a0054c0029 a0056c0033 a0057c0034 a0058c0036 a0059c0028 a0060c0072 a0061c0073 a0062c0074 a0063c0075 a0064c0076 a0065c0077 a0066c0080 a0067c0079 a0068c0078	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(96): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0009t0001 a0001c0009t0004 a0001c0009t0005 a0001c0022t0002 a0001c0024t0001 a0001c0067t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0002c0011t0003 a0003c0002t0001 a0003c0002t0003 a0003c0002t0005 a0003c0038t0007 a0004c0004t0002 a0004c0004t0017 a0004c0057t0002 a0004c0069t0002 a0006c0005t0001 a0006c0005t0003 a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 a0007c0007t0012 a0008c0010t0001 a0008c0010t0004 a0008c0010t0005 a0008c0010t0006 a0009c0012t0002 a0010c0013t0009 a0011c0014t0001 a0012c0015t0003 a0012c0015t0007 a0013c0016t0001 a0014c0017t0003 a0014c0017t0007 a0015c0018t0002 a0016c0023t0001 a0016c0039t0001 a0017c0019t0001 a0018c0037t0001 a0018c0044t0001 a0019c0020t0007 a0020c0021t0004 a0021c0026t0001 a0022c0040t0001 a0022c0061t0001 a0023c0025t0002 a0024c0027t0004 a0025c0062t0015 a0026c0041t0003 a0027c0042t0001 a0028c0043t0013 a0029c0049t0002 a0030c0047t0004 a0031c0048t0001 a0032c0045t0004 a0033c0046t0004 a0034c0052t0001 a0035c0051t0016 a0037c0059t0002 a0038c0058t0002 a0039c0056t0002 a0040c0065t0011 a0042c0055t0001 a0043c0066t0001 a0044c0068t0001 a0045c0053t0003 a0046c0064t0001 a0047c0060t0004 a0048c0070t0004 a0049c0071t0004 a0050c0063t0001 a0051c0035t0001 a0052c0030t0003 a0053c0031t0008 a0054c0029t0001 a0056c0033t0002 a0057c0034t0007 a0058c0036t0001 a0059c0028t0002 a0060c0072t0001 a0061c0073t0004 a0062c0074t0002 a0063c0075t0001 a0064c0076t0003 a0065c0077t0001 a0066c0080t0001 a0067c0079t0002 a0068c0078t0002	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 others(250): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0209 a0001c0001t0004g0067 a0001c0001t0004g0125 a0001c0001t0004g0168 a0001c0001t0005g0011 a0001c0001t0005g0022 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0135 a0001c0001t0005g0214 a0001c0001t0006g0055 a0001c0001t0014g0076 a0001c0009t0001g0023 a0001c0009t0001g0046 a0001c0009t0001g0172 a0001c0009t0004g0081 a0001c0009t0004g0164 a0001c0009t0005g0019 a0001c0022t0002g0126 a0001c0022t0002g0212 a0001c0024t0001g0197 a0001c0024t0001g0206 a0001c0067t0001g0015 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0002g0099 a0002c0003t0003g0094 a0002c0003t0003g0220 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0006g0044 a0002c0003t0006g0045 a0002c0003t0006g0047 a0002c0003t0006g0048 a0002c0003t0006g0052 a0002c0003t0006g0060 a0002c0003t0006g0128 a0002c0003t0006g0134 a0002c0003t0006g0217 a0002c0003t0006g0233 a0002c0003t0007g0116 a0002c0003t0010g0234 a0002c0003t0010g0262 a0002c0011t0003g0002 a0002c0011t0003g0003 a0002c0011t0003g0057 a0002c0011t0003g0133 a0002c0011t0003g0160 a0003c0002t0001g0014 a0003c0002t0001g0029 a0003c0002t0001g0037 a0003c0002t0001g0194 a0003c0002t0003g0056 a0003c0002t0005g0005 a0003c0002t0005g0013 a0003c0002t0005g0031 a0003c0002t0005g0082 a0003c0002t0005g0102 a0003c0002t0005g0103 a0003c0002t0005g0106 a0003c0002t0005g0132 a0003c0002t0005g0150 a0003c0002t0005g0151 a0003c0002t0005g0152 a0003c0002t0005g0153 a0003c0002t0005g0154 a0003c0002t0005g0162 a0003c0002t0005g0177 a0003c0002t0005g0199 a0003c0002t0005g0260 a0003c0038t0007g0144 a0004c0004t0002g0017 a0004c0004t0002g0040 a0004c0004t0002g0069 a0004c0004t0002g0107 a0004c0004t0002g0110 a0004c0004t0002g0111 a0004c0004t0002g0114 a0004c0004t0002g0118 a0004c0004t0002g0142 a0004c0004t0002g0163 a0004c0004t0002g0176 a0004c0004t0002g0181 a0004c0004t0002g0195 a0004c0004t0002g0208 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0228 a0004c0004t0002g0256 a0004c0004t0002g0259 a0004c0004t0017g0149 a0004c0057t0002g0171 a0004c0069t0002g0166 a0006c0005t0001g0064 a0006c0005t0001g0120 a0006c0005t0003g0170 a0006c0005t0004g0024 a0006c0005t0004g0036 a0006c0005t0004g0039 a0006c0005t0004g0119 a0006c0005t0004g0147 a0006c0005t0004g0179 a0006c0005t0004g0187 a0006c0005t0004g0235 a0007c0007t0003g0072 a0007c0007t0003g0085 a0007c0007t0003g0210 a0007c0007t0003g0229 a0007c0007t0003g0266 a0007c0007t0003g0270 a0007c0007t0004g0109 a0007c0007t0004g0188 a0007c0007t0012g0158 a0008c0010t0001g0021 a0008c0010t0004g0028 a0008c0010t0004g0178 a0008c0010t0005g0104 a0008c0010t0006g0117 a0009c0012t0002g0087 a0009c0012t0002g0226 a0009c0012t0002g0231 a0009c0012t0002g0272 a0010c0013t0009g0049 a0010c0013t0009g0063 a0010c0013t0009g0066 a0010c0013t0009g0205 a0011c0014t0001g0034 a0011c0014t0001g0180 a0011c0014t0001g0183 a0011c0014t0001g0257 a0012c0015t0003g0241 a0012c0015t0003g0242 a0012c0015t0007g0239 a0012c0015t0007g0245 a0013c0016t0001g0136 a0013c0016t0001g0174 a0013c0016t0001g0264 a0014c0017t0003g0053 a0014c0017t0007g0075 a0014c0017t0007g0169 a0015c0018t0002g0222 a0015c0018t0002g0263 a0015c0018t0002g0268 a0016c0023t0001g0182 a0016c0023t0001g0265 a0016c0039t0001g0074 a0017c0019t0001g0070 a0017c0019t0001g0073 a0018c0037t0001g0253 a0018c0044t0001g0027 a0019c0020t0007g0080 a0019c0020t0007g0097 a0020c0021t0004g0018 a0020c0021t0004g0124 a0021c0026t0001g0156 a0021c0026t0001g0211 a0022c0040t0001g0112 a0022c0061t0001g0096 a0023c0025t0002g0137 a0023c0025t0002g0157 a0024c0027t0004g0008 a0024c0027t0004g0078 a0025c0062t0015g0232 a0026c0041t0003g0093 a0027c0042t0001g0088 a0028c0043t0013g0230 a0029c0049t0002g0200 a0030c0047t0004g0065 a0031c0048t0001g0189 a0032c0045t0004g0068 a0033c0046t0004g0155 a0034c0052t0001g0186 a0035c0051t0016g0225 a0037c0059t0002g0115 a0038c0058t0002g0215 a0039c0056t0002g0062 a0040c0065t0011g0141 a0042c0055t0001g0050 a0043c0066t0001g0191 a0044c0068t0001g0159 a0045c0053t0003g0227 a0046c0064t0001g0010 a0047c0060t0004g0095 a0048c0070t0004g0139 a0049c0071t0004g0167 a0050c0063t0001g0271 a0051c0035t0001g0250 a0052c0030t0003g0246 a0053c0031t0008g0249 a0054c0029t0001g0244 a0056c0033t0002g0248 a0057c0034t0007g0240 a0058c0036t0001g0247 a0059c0028t0002g0091 a0060c0072t0001g0254 a0061c0073t0004g0238 a0062c0074t0002g0236 a0063c0075t0001g0237 a0064c0076t0003g0251 a0065c0077t0001g0221 a0066c0080t0001g0009 a0067c0079t0002g0006 a0068c0078t0002g0007	253	272	0.9302	-319	c.471 others(19): Show c.4719-3641_4719-3323del	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
DISP1_chr1_222810039_223010995	222887478	TTGTTTTT others(312): Show TTGTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01106.hp2 others(23): Show HG00621.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp2 HG01884.hp2 HG02080.hp1 HG02165.hp2 HG02258.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 NA18944.hp2 NA18949.hp1 NA18952.hp2 NA18992.hp1 NA18994.hp2 NA19030.hp2 NA19056.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0008 a0016 a0019	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0004c0010 a0005c0013 a0008c0017 a0016c0025 a0019c0039	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0004c0010t0001 a0005c0013t0001 a0008c0017t0001 a0016c0025t0001 a0019c0039t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(23): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0346 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0005t0001g0318 a0001c0005t0001g0320 a0001c0006t0001g0075 a0001c0006t0001g0219 a0001c0007t0001g0316 a0004c0010t0001g0176 a0005c0013t0001g0076 a0008c0017t0001g0175 a0016c0025t0001g0059 a0019c0039t0001g0092	26	348	0.0747	-319	c.-15 others(21): Show c.-158-40938_-158-40620del	DISP1	ENSG00000154309.9	transcript	ENST00000675850.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1013799	CTGCGTGT others(312): Show CTGCGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGAC AGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTG TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACA GACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTA TGACCAGGACAGACGGCGCCTCCACTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGCGTGAGACC AGGACAGACGATGCCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	-319	c.73+ others(19): Show c.73+105836_73+106154del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DSE_chr6_116365947_116449861	116429650	TAGAAATA others(312): Show TAGAAATATGAGGAGTTGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA AAATTAGCCGGGCGTGATGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCACTCCCGTCTGGGCCACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(229): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011	a0001c0001 a0002c0002 a0004c0005 others(7): Show a0001c0001 a0002c0002 a0004c0005 a0005c0006 a0006c0007 a0007c0009 a0007c0013 a0008c0008 a0009c0011 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0051 a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0002c0002t0019 a0002c0002t0022 a0002c0002t0040 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0004c0005t0012 a0005c0006t0015 a0005c0006t0017 a0006c0007t0001 a0006c0007t0046 a0007c0009t0018 a0007c0009t0057 a0007c0013t0039 a0008c0008t0001 a0009c0011t0001 a0011c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0028 others(214): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0254 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0166 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0196 a0001c0001t0002g0217 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0308 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0327 a0001c0001t0002g0336 a0001c0001t0004g0111 a0001c0001t0006g0004 a0001c0001t0006g0018 a0001c0001t0006g0101 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0006g0179 a0001c0001t0006g0258 a0001c0001t0006g0264 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0006g0292 a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0007g0242 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0246 a0001c0001t0007g0248 a0001c0001t0007g0249 a0001c0001t0007g0251 a0001c0001t0007g0313 a0001c0001t0011g0019 a0001c0001t0011g0022 a0001c0001t0011g0323 a0001c0001t0017g0265 a0001c0001t0017g0266 a0001c0001t0019g0036 a0001c0001t0021g0309 a0001c0001t0021g0310 a0001c0001t0024g0311 a0001c0001t0024g0312 a0001c0001t0036g0306 a0001c0001t0037g0088 a0001c0001t0038g0017 a0001c0001t0041g0226 a0001c0001t0042g0116 a0001c0001t0043g0250 a0001c0001t0048g0329 a0001c0001t0051g0307 a0002c0002t0001g0005 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0078 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0261 a0002c0002t0001g0330 a0002c0002t0005g0006 a0002c0002t0005g0024 a0002c0002t0005g0055 a0002c0002t0005g0056 a0002c0002t0005g0057 a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0061 a0002c0002t0005g0062 a0002c0002t0005g0070 a0002c0002t0005g0073 a0002c0002t0005g0074 a0002c0002t0005g0075 a0002c0002t0005g0143 a0002c0002t0005g0320 a0002c0002t0005g0331 a0002c0002t0005g0332 a0002c0002t0005g0333 a0002c0002t0005g0334 a0002c0002t0005g0335 a0002c0002t0009g0020 a0002c0002t0009g0054 a0002c0002t0009g0123 a0002c0002t0009g0124 a0002c0002t0009g0125 a0002c0002t0009g0322 a0002c0002t0019g0285 a0002c0002t0022g0007 a0002c0002t0040g0077 a0002c0002t0044g0304 a0002c0002t0045g0063 a0002c0002t0047g0034 a0004c0005t0012g0023 a0004c0005t0012g0067 a0004c0005t0012g0324 a0004c0005t0012g0325 a0005c0006t0015g0069 a0005c0006t0015g0247 a0005c0006t0015g0326 a0005c0006t0015g0328 a0005c0006t0017g0303 a0006c0007t0001g0030 a0006c0007t0001g0232 a0006c0007t0046g0042 a0007c0009t0018g0267 a0007c0009t0018g0268 a0007c0009t0057g0318 a0007c0013t0039g0276 a0008c0008t0001g0093 a0008c0008t0001g0094 a0008c0008t0001g0095 a0009c0011t0001g0305 a0011c0010t0001g0005	232	366	0.6339	-319	c.671 others(16): Show c.671-1286_671-968del	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENAH_chr1_225481829_225658123	225574612	AAAAAAAA others(312): Show AAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGG TAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp1 HG01358.hp2 others(27): Show HG01074.hp2 HG01255.hp1 HG01358.hp2 HG02080.hp1 HG02735.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18986.hp1 NA18991.hp1 NA19002.hp1 NA19011.hp1 NA19054.hp2 NA19081.hp2 NA19084.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0046 a0001c0001t0059 a0001c0001t0086 a0001c0001t0101 a0002c0002t0003 a0002c0002t0022 a0003c0004t0037	a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0069 others(27): Show a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0168 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0284 a0001c0001t0003g0289 a0001c0001t0005g0140 a0001c0001t0037g0253 a0001c0001t0038g0255 a0001c0001t0038g0260 a0001c0001t0039g0071 a0001c0001t0039g0206 a0001c0001t0046g0075 a0001c0001t0059g0285 a0001c0001t0086g0135 a0001c0001t0101g0077 a0002c0002t0003g0273 a0002c0002t0022g0078 a0003c0004t0037g0192	30	308	0.0974	-319	c.6-7 others(13): Show c.6-7517_6-7199del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	1/13			chr1	TogoVar
FAM168B_chr2_131042876_131098460	131086781	AAAGGCCG others(312): Show AAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGT GGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG TGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGC ACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAGAGTCACAAGAGAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00544.hp2 others(69): Show HG00099.hp1 HG00280.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03579.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18999.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA19070.hp2 NA19091.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0035	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0019 others(52): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0005g0018 a0001c0001t0005g0155 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0171 a0001c0001t0005g0173 a0001c0001t0010g0009 a0001c0001t0011g0008 a0001c0001t0013g0024 a0001c0001t0013g0174 a0001c0001t0013g0175 a0001c0001t0015g0166 a0001c0001t0015g0172 a0001c0001t0018g0176 a0001c0001t0019g0154 a0001c0001t0020g0193 a0001c0001t0021g0186 a0001c0001t0023g0169 a0001c0001t0027g0168 a0001c0001t0035g0160	72	260	0.2769	-319	c.-11 others(17): Show c.-11-4443_-11-4125del	FAM168B	ENSG00000152102.18	transcript	ENST00000389915.4	protein_coding	1/6			chr2	TogoVar
FAM83G_chr17_18963789_19009764	19006218	TAGATTTC others(312): Show TAGATTTCACCAGTTTTTTGTTTGTTTTGGGACAGGGTCTTGCTCTGTCA CCTAGGCTGGAGTGCAGTGGTATGTACAATCATTGCTCAATGCAGCCTTG AACTCCTGGGCTCAAGCCTCAGCCTCCTGAGTAGCTGGGACCAGAGACAC CATGCCCAGCTAATTTTTTTTCTTTTTTCTTTTTTCTTTTTTTTTTTTTT TTGTAGAGACAAGGCCTCACTATGTTGCTCAGACTGGTCTCAAACTCCTG GCCTCAAGTGATTCTCCCACCTTGGCCTCCCGAAGTTCTGGGATTATAGG CGTGAGCCACTGCACTGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	378	0.0027	-319	c.-19 others(11): Show c.-1957_-1639del	FAM83G	ENSG00000188522.16	transcript	ENST00000388995.11	protein_coding		1455		chr17	TogoVar
FRMD4A_chr10_13638706_14335924	14014954	CCTTCCTT others(312): Show CCTTCCTTCCTTCCCTCCCTCCCTTCCTTTCATCCTTTCTTATCTCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCT TCCTTTTCTTCTGTCCTTCCTTCTCTCTCTCTCTTTCCCTCCCTCCCACC CTTCCTTTCATCCTTTCTTCTCTTCCCTTTCTCCTTCCTTCCTTCCTTTC TTCTTTCCTTCCTTTTCTTCTGTCCCTCCCTCCCTCCCACCCTTCCTTTA ATCTTTTCTTCCCTTCCCTTTCTCCTTCCTTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0017 a0001c0001t0003 a0001c0002t0017	a0001c0001t0003g0079 a0001c0002t0017g0131 a0001c0001t0003g0079 a0001c0002t0017g0131	2	134	0.0149	-319	c.46- others(19): Show c.46-156361_46-156043del	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	2/24			chr10	TogoVar
FSTL5_chr4_161378897_162169000	162141093	CCCTCCCT others(312): Show CCCTCCCTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG TGTAGCTGGGACTACAGGCGCGCACCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00621.hp1 others(32): Show HG00140.hp1 HG00438.hp1 HG00621.hp1 HG00642.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01515.hp1 HG01952.hp1 HG02056.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp2 NA18612.hp1 NA18944.hp1 NA18964.hp2 NA18983.hp1 NA19060.hp1 NA19080.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005 a0004c0009 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0002t0016 a0001c0002t0018 a0001c0002t0021 a0001c0003t0019 a0002c0004t0001 a0002c0004t0004 a0003c0005t0009 a0004c0009t0006 a0005c0007t0001	a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 others(32): Show a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0003g0108 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0133 a0001c0001t0006g0137 a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0012g0089 a0001c0001t0014g0101 a0001c0001t0020g0132 a0001c0001t0022g0138 a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0002t0018g0088 a0001c0002t0021g0134 a0001c0003t0019g0105 a0002c0004t0001g0087 a0002c0004t0004g0121 a0002c0004t0004g0124 a0003c0005t0009g0125 a0003c0005t0009g0127 a0003c0005t0009g0128 a0004c0009t0006g0140 a0005c0007t0001g0094 a0005c0007t0001g0096	35	142	0.2465	-319	c.-17 others(19): Show c.-17+22203_-17+22521del	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807331	ACCTTCCC others(312): Show ACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCC CCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	314	0.0032	-319	c.31 others(11): Show c.3166_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3045		chr2	TogoVar
GPC5_chr13_91393621_92872237	92352965	TGAAATGT others(312): Show TGAAATGTGTATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGG CAGAAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	42	0.0238	-319	c.156 others(23): Show c.1561+207991_1561+208309del	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GRIA4_chr11_105605073_105987090	105894779	TTATTGCT others(312): Show TTATTGCTACATATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00609.hp1 others(40): Show HG00099.hp1 HG00280.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp1 HG02083.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA19000.hp2 NA19007.hp1 NA19063.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0004c0008	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(17): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0002t0006 a0001c0002t0012 a0001c0002t0021 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0002c0005t0037 a0004c0008t0020	a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0073 others(40): Show a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0005g0017 a0001c0001t0005g0152 a0001c0001t0010g0021 a0001c0001t0010g0041 a0001c0001t0010g0134 a0001c0001t0010g0139 a0001c0001t0011g0043 a0001c0001t0011g0130 a0001c0001t0011g0136 a0001c0001t0011g0162 a0001c0001t0013g0118 a0001c0001t0013g0129 a0001c0001t0013g0147 a0001c0001t0019g0164 a0001c0001t0019g0165 a0001c0001t0032g0023 a0001c0001t0033g0068 a0001c0001t0034g0140 a0001c0001t0035g0085 a0001c0001t0036g0135 a0001c0001t0040g0180 a0001c0002t0006g0029 a0001c0002t0006g0078 a0001c0002t0006g0079 a0001c0002t0006g0125 a0001c0002t0006g0168 a0001c0002t0006g0178 a0001c0002t0012g0061 a0001c0002t0012g0081 a0001c0002t0012g0082 a0001c0002t0012g0100 a0001c0002t0021g0067 a0001c0002t0021g0103 a0001c0002t0041g0028 a0001c0002t0042g0047 a0001c0002t0043g0056 a0002c0005t0037g0137 a0004c0008t0020g0146	43	184	0.2337	-319	c.727 others(17): Show c.727-3473_727-3155del	GRIA4	ENSG00000152578.15	transcript	ENST00000282499.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRTP1_chr13_113319163_113369130	113330080	CGTGCATG others(312): Show CGTGCATGGAAACCCGGGTGTGTGCATGGAAACCCGGGTGTGTGCATGGA AACCCAGGAGTGTGCATGGAAACTCAGGTGCGTGCATGGGAGCCCAGGTG CGTGGATGGAAACCCAGATGTGTGCATGGGAGCCCAGGTGCGTGGATGGA AACCCGGGTGTGTGCATGGAAACCCAGGTGTGTGCATGGGAGCCCAGGTG TGTGCGTGGAAACTCAGGTGCGTGCATGGAGCCCAGGTGCGTGGATGGAA ACCCAGGTGTGTGCATGGGAGCCCAGGTGTGTGGAAGGAAACCCAGGTGT GTGCATGGAAGCCCAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	288	0.0035	-319	c.563 others(17): Show c.563-4308_563-3990del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7			chr13	TogoVar
GSTT2B_chr22_23952414_23966195	23961682	TAGAGTTT others(312): Show TAGAGTTTCACCCAGTGGGATGTGACACTTGCAGGTGTCCCAAACTGGTG GGAACCTTGACTGGAAGGCTGGGGTTAAGGATGAACTTTCTGCCGTCCAG ACTGTCCCCTGCAGAGCAGCTGCTGCCAGACAGCGGGAGCTGCCAGACAG CGGGAGCTCCCACTTCGTGCACAGGATGGGGGCAGGGAGCCCGCAGCCGC GGGAGGCAGGAATGACTGTCCGGGAACCTCCTTTCTTCTCCCTGAATCCC AGCCCTGGCATCTCACCAGGGGGCACAGTGATGGTCCAGGGCTGGGCCCG GGACTCTAGCTGAATCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	119	0.0084	-319	c.-87 others(9): Show c.-870_-552del	GSTT2B	ENSG00000133433.11	transcript	ENST00000290765.9	protein_coding		488		chr22	TogoVar
GUCA2A_chr1_42157690_42169745	42166805	GTGTGTGT others(312): Show GTGTGTGTGTGCTGAGGTGTGTGTGTGTGCTGAGCTGTGTGTGTGCTGAT GTGTGTGTATACACTGAGGTGTGTGTGAGTGCTGATGTGTGTGTATACAC TGAGGAGCGTGTGTGTGCTGAGGTATGTGTGCGCTGATGTGTGTGTATAC ACTGAGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCTGACATGTGTGTAT ACACTGAGGTGCGTGTATGTGCTGAGGTGTGTGAGTGCTGACGTGTGTGT ATACACTGAGGTGTGTGTGCGCTGACGTGTGTGTATACACTGAGGTGTGT GTGCTGACGTGTGTATACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(102): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02970.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18954.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp2 NA19078.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0004g0019 a0002c0002t0001g0001	105	436	0.2408	-319	c.-24 others(11): Show c.-2412_-2094del	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		2061		chr1	TogoVar
HLA-DRB1_chr6_32573775_32594848	32579821	AGGCCGGG others(312): Show AGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAACAAAAAAAAACCTCT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02895.hp2 others(2): Show HG01257.hp2 HG01258.hp2 HG02895.hp2 HG03540.hp2 NA19002.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0013 a0013c0014t0013	a0013c0014t0013g0011 a0013c0014t0013g0011	5	208	0.0240	-319	c.787 others(15): Show c.787+107_787+425del	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	5/5			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32579825	CGGGCGCG others(312): Show CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA ACAAAAAAAAACCTCTTGTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(21): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(22): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(76): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	131	208	0.6298	-319	c.787 others(15): Show c.787+103_787+421del	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	5/5			chr6	TogoVar
ITGB5_chr3_124756948_124892365	124789758	TCAGAACC others(312): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01074.hp1 others(6): Show HG00639.hp1 HG00735.hp1 HG01074.hp1 HG01255.hp1 HG02148.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0004c0017 a0001c0001 a0004c0005 a0004c0017	a0001c0001t0002 a0004c0005t0008 a0004c0017t0008 a0001c0001t0002 a0004c0005t0008 a0004c0017t0008	a0001c0001t0002g0070 a0001c0001t0002g0241 a0004c0005t0008g0303 others(6): Show a0001c0001t0002g0070 a0001c0001t0002g0241 a0004c0005t0008g0303 a0004c0005t0008g0304 a0004c0005t0008g0305 a0004c0005t0008g0311 a0004c0005t0008g0312 a0004c0005t0008g0314 a0004c0017t0008g0313	9	352	0.0256	-319	c.169 others(19): Show c.1693+6311_1693+6629del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124789932	TCAGAACC others(312): Show TCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGA CAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTC TGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTAACAGA ACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGG TTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGCCTCTGACT AGACAGGGTTATCAGAACCGCCTCTGACTAGACAGGGTTATCAGAACCGC CTCTGACTAGACAGGGTTAA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0197 a0001c0002t0003g0197	1	352	0.0028	-319	c.169 others(19): Show c.1693+6137_1693+6455del	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	10/14			chr3	TogoVar
KCNMA1_chr10_76879882_77642808	77041144	GCTAATTC others(312): Show GCTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(94): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00597.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0010 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0003 a0001c0007t0002 a0001c0008t0001 a0002c0010t0003 a0003c0006t0003 a0004c0009t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 others(94): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0090 a0001c0001t0004g0097 a0001c0001t0004g0103 a0001c0001t0005g0072 a0001c0001t0005g0075 a0001c0001t0005g0092 a0001c0001t0006g0061 a0001c0001t0006g0093 a0001c0001t0007g0025 a0001c0001t0007g0087 a0001c0001t0009g0035 a0001c0001t0014g0037 a0001c0001t0015g0007 a0001c0001t0016g0064 a0001c0001t0020g0099 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0046 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0088 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0020 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0003g0003 a0001c0002t0003g0018 a0001c0002t0003g0040 a0001c0002t0003g0057 a0001c0002t0003g0067 a0001c0002t0004g0101 a0001c0002t0004g0105 a0001c0002t0006g0032 a0001c0002t0007g0091 a0001c0002t0008g0096 a0001c0002t0008g0102 a0001c0002t0010g0086 a0001c0002t0011g0089 a0001c0002t0012g0050 a0001c0002t0017g0045 a0001c0002t0018g0098 a0001c0003t0001g0010 a0001c0003t0001g0080 a0001c0003t0003g0024 a0001c0003t0003g0082 a0001c0004t0001g0036 a0001c0004t0001g0063 a0001c0004t0003g0021 a0001c0005t0001g0033 a0001c0005t0003g0015 a0001c0007t0002g0014 a0001c0008t0001g0004 a0002c0010t0003g0095 a0003c0006t0003g0001 a0004c0009t0001g0094	97	106	0.9151	-319	c.175 others(19): Show c.1750-1826_1750-1508del	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	14/27			chr10	TogoVar

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